Variant report

Variant	rs10947793
Chromosome Location	chr6:12142817-12142818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10947758	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12199075	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12213070	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13193986	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13206426	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13209918	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998528	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228209	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228210	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228213	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228215	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777755	0.91[ASN][1000 genomes]
rs3777760	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777761	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777776	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822925	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4377779	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714201	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4714232	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939913	0.81[ASN][1000 genomes]
rs7383768	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7752678	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296258	0.80[ASN][1000 genomes]
rs9357299	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366985	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369076	0.80[ASN][1000 genomes]
rs9369083	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369108	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380781	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380790	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380859	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394538	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394569	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12121400-12150200	Weak transcription	Fetal Brain Male	brain
2	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:12128600-12148400	Weak transcription	Fetal Heart	heart
4	chr6:12134800-12149600	Weak transcription	Brain Angular Gyrus	brain
5	chr6:12137000-12163600	Weak transcription	Small Intestine	intestine
6	chr6:12138400-12148000	Weak transcription	Osteobl	bone
7	chr6:12138400-12148400	Weak transcription	Hela-S3	cervix
8	chr6:12138800-12148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:12138800-12148400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:12138800-12148400	Weak transcription	NHLF	lung
11	chr6:12139000-12148000	Weak transcription	Brain Substantia Nigra	brain
12	chr6:12139000-12148400	Weak transcription	HSMMtube	muscle
13	chr6:12139000-12154200	Weak transcription	Right Atrium	heart
14	chr6:12139000-12161600	Weak transcription	HepG2	liver
15	chr6:12139400-12143000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:12139400-12148200	Weak transcription	HSMM	muscle
17	chr6:12139600-12147600	Weak transcription	A549	lung
18	chr6:12139600-12148000	Weak transcription	NHEK	skin
19	chr6:12139800-12149800	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:12140000-12144200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:12140000-12148400	Weak transcription	NHDF-Ad	bronchial
22	chr6:12140000-12154600	Weak transcription	Right Ventricle	heart
23	chr6:12140200-12143000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:12140200-12161800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:12140400-12149800	Weak transcription	Brain Germinal Matrix	brain
26	chr6:12140400-12150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:12140600-12143000	Weak transcription	Placenta	Placenta
28	chr6:12140600-12143400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:12140600-12147400	Weak transcription	K562	blood
30	chr6:12140600-12147800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:12140600-12148000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:12140600-12148200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:12140600-12148400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:12140600-12148400	Weak transcription	Left Ventricle	heart
35	chr6:12140600-12149800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:12140600-12149800	Weak transcription	Ovary	ovary
37	chr6:12140600-12151400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:12140600-12155400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:12140600-12158400	Weak transcription	Aorta	Aorta
40	chr6:12140600-12158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:12140600-12158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:12140600-12161400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:12140600-12161400	Weak transcription	Pancreas	Pancrea
44	chr6:12140600-12161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:12140600-12161400	Weak transcription	Spleen	Spleen
46	chr6:12140600-12161600	Weak transcription	Esophagus	oesophagus
47	chr6:12140600-12161800	Weak transcription	Gastric	stomach
48	chr6:12140600-12163600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:12140600-12163600	Weak transcription	Psoas Muscle	Psoas
50	chr6:12140600-12163800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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